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Phosphorus is a mineral that makes up 1% of a person's total body weight. It is also the second most abundant mineral in the body that is important for filtering out waste and building healthy bones and teeth. It is commonly found in many foods, like beer and cheese. Phosphate is a form of phosphorus that can be taken as supplements when you can’t get the required amounts through diet.

Importance Of Phosphate

Our body uses phosphorus for
- Movement of muscles
- Strong bones and teeth
- Providing energy
- Lowering post-exercise muscle pain
- Filtering waste from the kidney
- Formation of DNA
- Nerve conduction
- Maintaining a regular heartbeat

Phosphate is also known to treat urinary tract infections and prevent the development of calcium stones in the kidney.

When Was Phosphate Discovered?

In the quest to create the “philosophers’ stone” like every other alchemist, Henning Brandt, a German scientist, collected and boiled around 1200 gallons of urine. He then mixed the tar-like residue obtained with sand and charcoal and maintained the mixture at the highest temperature the furnace could reach. After several hours of heating the residue, a white vapor was formed, which was then condensed into white drops. These drops had the “glow in the dark” property and hence the substance was named phosphorus.
The discovery of phosphorus made Brandt the first-ever scientist to discover a chemical element. Due to financial constraints, he ended up selling the discovery process to other scientists. Within 50 years of its discovery, phosphorus was being produced and sold to apothecaries, natural philosophers, and showmen. Further down the line, this element was making its way into matches, fertilizer, and bombs.

What Is The RDA Of Phosphate?

The recommended dietary allowance (RDA) of phosphate varies between 100mg and 1250 mg. Infants need about 200mg, while children between the ages of 9 and 18 need 1250 mg. Adults need 700mg.

How Genes Influence Phosphate Requirements?

CASR Gene and Phosphate Needs

The CASR gene encodes the calcium-sensing receptor (CASR). It is found in the plasma membranes of the parathyroid gland and renal tubule cells (in the kidneys). Calcium molecules bind to the calcium-sensing receptors. This receptor also regulates the release of the parathyroid hormone, which is responsible for phosphorus reabsorption in the kidney.

rs17251221 of CASR Gene And Phosphate Deficiency Risk
rs17251221 is an SNP in the CASR gene. The G allele of rs17251221 was also associated with higher serum magnesium levels and lower serum phosphate levels. Each copy of the G allele was also associated with a lower bone mineral density at the lumbar spine.

Non-genetic Factors Influencing Serum Phosphate Levels

  1. Vitamin D3 levels: A deficiency in vitamin D levels could result in poor absorption of phosphate
  2. Alcoholism: Alcoholism is treated with refeeding, which depletes phosphate levels
  3. Dietary intake: Severe malnutrition, such as from anorexia or starvation, can result in phosphate deficiency
  4. Kidney disease: Affects the renal reabsorption of phosphate
  5. Diarrhea: Diarrhea has been shown to increase phosphate losses through the intestines

What Happens When Phosphate Levels Are Too Low?

  1. Low phosphorus levels can result in
  2. Anxiety
  3. Appetite loss
  4. Joint pain
  5. Irritability
  6. Tiredness or fatigue

Children with phosphorus deficiency may also show poor bone development.

What Happens When Phosphorus Levels Are Too High?

Hyperphosphatemia is a rare condition characterized by high levels of phosphorus in the blood. It occurs mainly due to kidney problems or issues in calcium homeostasis (maintenance of calcium levels). The presence of higher levels of calcium in the blood can result in:
1. Diarrhea
2. High vitamin D levels
3. Damage to kidneys
4. Serious infections

"## What Is The Test To Identify Phosphorus Levels?
Phosphorus levels can be determined using a serum phosphorus test. This test is usually carried out to check phosphate levels as an indicator of kidney or bone disease. It also aids in assessing the functioning of parathyroid glands.
"

Dietary Sources Of Phosphorus

Plant Sources Of Phosphorus

Animal Sources Of Phosphorus

Summary

  1. Phosphorus plays an important role in the health of bones, muscles, and kidneys. It works with calcium to regulate bone health.
  2. Most people get enough phosphorus through their diets; however, several factors can affect its absorption in the body.
  3. A region rs17251221 in the CASR gene influences the intestinal absorption of phosphorus; the G allele has been associated with decreased absorption and, thus, decreased phosphate levels in the body.
  4. Low vitamin D3 levels, diarrhea, and alcoholism are also risk factors for phosphate deficiency - it can lead to anxiety, joint pain, and fatigue.
  5. Some dietary sources of phosphorus are dairy, nuts, chicken, and seafood.

Reference

https://medlineplus.gov/genetics/gene/casr/
https://academic.oup.com/hmg/article/19/21/4296/665947
https://www.mayoclinic.org/diseases-conditions/rickets/symptoms-causes/syc-20351943

What Is Fiber And Why Is It Important For Weight Loss?

Fiber is a type of carbohydrate also called roughage. This nutrient is available in many plant-based foods. Though fiber is a type of carbohydrate, it cannot be broken down into sugars in the body. There are two common types of dietary fibers.

Soluble fiber - This is fiber that is easily dissolved in the body. It turns into a gel-like substance in the body and leaves the person feeling full for a longer time.
Insoluble fiber - This is fiber that does not dissolve in the body. It moves through the digestive system as such and can prevent problems like constipation.

The soluble and insoluble fibers are further classified into different types depending on their sources.

Both these types of fibers keep you healthy.

In recent times, fibers have become even more important for their ability to help with weight loss.

Fiber At The Molecular Level - Getting Technical

Soluble fiber is not processed in the small intestine. In the stomach, it absorbs water and turns into a gel. This moves through the small intestine and reaches the large intestine. Here, soluble fibers are acted upon by the bacteria present in the large intestine.

This process is called fermentation. Fermentation results in certain nutrients that are beneficial to your body.

The remaining soluble fiber helps give body (volume) to your stool. The water content in the soluble fiber is also retained and passed out with your stools.

The insoluble fibers meanwhile pass through the small intestine and the large intestine unchanged. Except for a few types, the insoluble fibers are not fermented. Bigger molecules of insoluble fibers trigger the production of mucus in the large intestine. These provide volume to your stool and make passing stools easier.

Smaller molecules of insoluble fibers can be constipating.

While still not a macronutrient, dietary fiber is gaining status as a very important nutrient.

The significance of fiber

The significance of fiber in weight loss

Many studies conclude that a fiber-rich diet helps with weight loss. Here are the reasons why.
- Fiber-rich food keeps you full for a longer time and brings down appetite. This can help with weight loss over time
- Fiber prevents fluctuations in blood sugar levels. When sugar levels don’t go up and down drastically, your body goes through lesser sugar cravings and hunger.
- Fiber keeps the gut healthy and clean. This regulates digestion.

Did You Know?

Even though fiber passes through the body mostly unchanged, there are few places where your body smartly breaks it down into portions that it can easily handle.

The minute you eat fiber-rich food, your teeth and jaw work to break down the food into smaller portions. This action changes the physical appearance and structure of the fiber. After it reaches the stomach, the churning action of the stomach muscles also helps in further altering its physical structure.

The fiber content is further broken into smaller parts. From here until fiber reaches the large intestine, it mostly remains the same.

Fiber keeps your gut healthy by flushing out excess LDL cholesterol and other unwanted deposits in the digestive tract as it travels down.

The Story Behind Fiber

The story of fiber goes back to the times of ancient Greece. Greeks consumed wheat bran regularly as they thought it helped prevent constipation. They did not know why wheat bran helped though.

It was only in the 19th century that people started looking more intently into fiber and its benefits. The benefits of fiber in curing constipation was introduced in America by J.H Kellogg, a doctor, who later created the iconic Kellogg cereal brand.

Kellogg initially pointed to the lack of fiber as a reason for two common conditions prevalent then - constipation and masturbation. He sincerely believed that including a lot of fiber in food will ‘treat’ these conditions.

Kellogg and his family came up with a kind of granola that was full of fiber content. In 1953, a British physician first coined the term ‘dietary fiber’.

The early 1900s saw a lot of demand for these fiber-rich breakfast options and slowly, foods with higher fiber content became popular choices in families with healthy food choices.

As nutritionists and doctors started understanding what fiber did to the body, the link between high fiber and weight loss became a well-researched topic.

Total dietary fiber intake should be 25 to 30 grams a day from food, not supplements.
Did you know that the average American gets only about 15 grams of fiber a day?

How Genetics Influence Fiber Related Weight Loss

FTO gene

The FTO gene is associated with obesity, type II diabetes, and body-mass index. A particular variant of the FTO gene seems to have a relationship between lower waist circumference and a high-fiber diet.

rs11076023
A allele - Individuals are likely to lose more weight upon fiber intake. Their waist circumference also reduces.
T allele - Individuals are likely to lose moderate to less weight upon fiber intake with a lesser reduction in waist circumference.

TCF7L2 gene

The TCF7L2 gene produces the TCF7L2 protein. A variation in this gene plays an important role in increasing/decreasing the risk of type II diabetes in relation to fiber intake. Type II diabetes and sharp sugar highs and dips in the body are directly related to weight gain.

*rs7903146 *
There are three genotypes of this SNP that relate fiber intake to risk of diabetes and weight loss. Individuals with the CC and CT genotype have lesser risk of developing type II diabetes upon fiber intake.
These individuals also lose more weight when they include fiber-rich foods. Those with the TT genotype are not protected against diabetes type II because of a high fiber diet and also lose only moderate to less weight upon fiber intake.

Non Genetic Factors That Relate Fiber And Body Weight

Feeling of fullness - Fiber-rich food is often bulky and fills you up well. It takes a long time for fiber to pass through the digestive tract too. Because of these reasons, fiber gives you a sense of being full for a longer time. This prevents re-snacking in between meals and can help with weight loss.

Low calories - Many fiber-rich foods are low in calories. Their energy density is lesser than foods rich in simpler carbohydrates. This means that even if you eat your normal quantity, you are getting lesser kilojoules/gram of the food. Choosing a fiber-rich meal is hence a perfect way to bring down the caloric intake and lose weight.

Lowered risk of sugar dips - When you have a normal carbohydrate-rich meal, carbs are quickly broken down into sugars and are absorbed right away. This causes a sharp increase in blood sugar levels and once the sugars are absorbed, a sharp dip too. Sugar dip can make you crave food again, especially sugary snacks and desserts. Fiber prevents the sharp sugar dips from happening and maintains your sugar levels stable. You will hence snack less and lose weight faster.

What are the symptoms of fiber overdose?

While many people are only fiber deficient, it is possible to get an overdose of fiber when you do not plan your diet right.

When you consume more than 70 grams of fiber a day, these could be some of the side effects noted.

What are the symptoms of fiber deficiency?

When you consistently get lesser fiber than what’s recommended, here are some of the symptoms to look out for:

Recommendations For Healthy Weight Loss With A Fiber-based Diet

Summary

  1. Fiber, also called roughage, is quickly gaining popularity as an important nutrient needed for the healthy functioning of the body.
  2. This is a type of carbohydrate that is available in foods in soluble and insoluble forms. 3. A high fiber diet is associated with an increased chance of weight loss.
  3. High-fiber diet prevents constipation, cardiovascular diseases, risks of type II diabetes, and keeps the gut healthy.
  4. Some people are genetically designed to lose more weight with increased fiber intake than others.
  5. Making sure you get your daily recommended dose of fiber will help you stay fit and healthy.

Reference

https://www.forbes.com/sites/priceonomics/2016/05/17/the-surprising-reason-why-dr-john-harvey-kellogg-invented-corn-flakes/?sh=45da5e766997
https://www.theguardian.com/business/2006/dec/28/food.usnews
https://www.otsuka.co.jp/en/health-and-illness/fiber/about/history/
https://www.healthline.com/health/food-nutrition/how-much-fiber-per-day
https://medlineplus.gov/ency/article/002136.htm
https://www.ucsfhealth.org/education/increasing-fiber-intake
https://www.medicalnewstoday.com/articles/321286#symptoms
https://www.betterhealth.vic.gov.au/health/healthyliving/fibre-in-food
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433658/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807705/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3478519/

Calcium is the most abundant material in the body. The body stores over 99% of the calcium in bones and teeth. The rest is found in nerve cells, body tissues, blood, and other body fluids. The body uses bones as a reservoir for (and sometimes source of) calcium. A proper level of calcium in the body over a lifetime can help prevent osteoporosis.
When you don’t get enough calcium, you also increase your risk of developing other conditions like:
- Osteopenia
- Calcium deficiency disease (hypocalcemia)

Importance of Calcium

Other than its vital role in the formation and strengthening of bones and teeth, calcium also helps with the following:
- Muscle contractions
- Normal enzyme functioning
- Clotting blood
- Sending and receiving nerve signals
- Squeezing and relaxing muscles
- Releasing hormones and other chemicals
- Maintaining a normal heart rhythm

The Evolutionary Perspective of Calcium

The present nutritional requirements of calcium is a result of a 200 million year evolution. The evidence indicates that this evolution occurred in a high-calcium nutritional environment.

Humans who lived during the Stone Age period consumed a lot more calcium (1500mg/day or even more) than we do today. The higher calcium consumption can be attributed to the requirement for higher physical exertion. Examination of bony remains from that period revealed a higher bone mass and lesser age-related bone loss.

While the Americans today get the majority of calcium through dairy foods, the stone age people had to rely on plant sources as domestication hadn’t begun by then. Their diet was also high in protein, fiber, and other micronutrients, and at the same time, low in sodium and fats. Archaeological evidence suggests that the Stone Age diet helped prevent diseases like heart disease, stroke, osteoporosis, and other chronic diseases.

Evolution has programmed our genes to adapt to a certain kind of nutritional pattern- which has many positive implications on our health. Changing our diet to match this ‘designated’ nutritional pattern can be a big challenge but can help achieve major improvements in our health.

RDA of Calcium

The RDA of calcium for adults 19-50 years of age is 1000 mg for both men and women. Women who are 51 and older (post-menopausal) and men who are 71 and older require about 1200 mg of calcium.
However, the WHO states that adults require only 500 mg of calcium per day.

How Genes Influence Calcium Requirements?

CASR Gene and Calcium Needs

The Calcium sensing receptor (CASR) gene encodes a calcium-sensing receptor, which binds to calcium present in the blood. The [CASR protein}(https://medlineplus.gov/genetics/gene/casr/) is present on the cells of the parathyroid glands and is associated with the secretion of the parathyroid hormone. This hormone transfers calcium from the bone into the blood, with bones acting as storage centers for calcium.
When calcium levels are high, the levels of parathyroid hormone are low. This facilitates increased binding of calcium to CASR receptors in the kidney. This ultimately leads to more removal of calcium via kidneys.

rs1801725 of CASR Gene And Calcium Deficiency Risk
rs1801725 is an SNP in the CASR gene associated with serum calcium levels. This SNP is also called A986S. It contributes to 1.26% of the variance in serum calcium levels. The T allele of rs1801725 was associated with higher serum calcium.

rs17251221 of CASR Gene And Calcium Deficiency Risk
Previous studies have indicated that rs17251221 in the CASR gene is associated with total serum calcium levels. People with the GG + GA genotypes have higher calcium levels than those with the AA genotype.

GATA3 Gene and Calcium Needs

GATA3, or GATA binding protein 3, is a gene that is located on chromosome 10 and belongs to the GATA family of transcription factors.
Defects in this gene have been associated with hypoparathyroidism.
Hypothyroidism causes a reduction in the calcium levels in the blood, i.e., hypocalcemia.

rs10491003 of GATA3 Gene And Calcium Deficiency Risk
rs10491003 is an SNP in the GATA3 gene. It is implicated in disorders of calcium imbalance. The T allele has been associated with a 0.027 unit increase in calcium levels.

CYP24A1 Gene and Calcium Needs

The CYP24A1 gene is located on chromosome 20 and encodes the enzyme 24-hydroxylase.
This enzyme is responsible for controlling the amount of active vitamin D available in the body.
Vitamin D is absolutely essential for the proper absorption of calcium from the intestines and is also involved in various processes required for bone and tooth formation.
Many mutations in this gene are found to be associated with idiopathic infantile hypercalcemia 1.

rs1570669 of CYP24A1 Gene And Calcium Deficiency Risk
rs1570669 is an SNP in the CYP24A1 gene. The A allele in this SNP is associated with a 0.012-0.024 decrease in the serum calcium levels. People with the AA genotype are at a higher risk for calcium deficiency.

Other genes like CARS, DGKD, DGKH, GGCKR, TTC39B, and WDR81 also influence calcium levels in the body.

Non-genetic Factors That Influence Calcium Requirements

Factors That Lower Calcium Levels

Causes Of Increased Calcium Levels

Overactivation of parathyroid hormone: Also called hyperparathyroidism, this condition results in excess parathyroid hormone. This results in a calcium imbalance.
Medications: Diuretics release a lot of water from the body, which results in the underexcretion of calcium. Lithium causes excess secretion of the parathyroid hormone.
Lung diseases: Certain lung diseases like sarcoidosis result in high vitamin levels, which increases the level of calcium.
Cancer: Some cancers, especially lung, blood, and breast, increases your risk for calcium buildup.
Dehydration: This, coupled with poor kidney function, can increase your calcium levels.

Symptoms of Calcium Deficiency

Also called hypocalcemia, calcium deficiency is a condition where there are low calcium levels in the body. Women are more prone to calcium deficiency, especially those who are going through menopause. This is because of the decrease in the female hormone estrogen, which plays a vital role in calcium metabolism.
Some symptoms of hypocalcemia include:
-Muscle problems such as aches, spasms, cramps
-Increased numbness and tingling in the arms, legs, hands, and feet
-Severe fatigue, lack of energy
-Dry skin
-Weak and brittle nails
-Osteoporosis, that increases the chances of breaking or brittle bones
-Dental problems like poor oral health, week roots of teeth, brittle teeth, gum irritation, increased cavities
-Depression
-Hallucinations

Symptoms of Excess Calcium

Hypercalcemia/excess calcium describes a condition where there are high concentrations of calcium in the blood. This can be harmful to your bones and organs, especially to your kidneys.
The parathyroid hormone controls the levels of calcium in the body. Hypercalcemia is usually the effect of overactive parathyroid glands that result in an increase in the blood calcium levels.
Hypercalcemia affects different organs differently:
Kidneys: Kidneys need to overwork to filter all the extra calcium. This causes increased thirst and frequent urination
Bones: The calcium in the bone is leached out into the blood - thus, it gets weakened, which results in bone pain
Abdomen: Symptoms related to the abdomen include nausea, constipation, vomiting, and abdominal pain
Heart: High calcium levels can result in abnormal heart rhythms
Muscles: Hypercalcaemia can cause muscle weakness and spasms
Brain: Symptoms like lethargy, confusion, fatigue, and even depression

Dietary Recommendation for Calcium

One of the best ways to ensure healthy and optimum calcium levels is by sufficient dietary intake of the mineral.

Animal Sources of Calcium

Plant Sources of Calcium

Summary

  1. Calcium is a mineral that is vital for the health of bones and teeth. Adequate calcium levels are very important to prevent osteoporosis, a condition where the bones become brittle and weak.
  2. Women require more calcium than men. The requirements also increase with age. Older people require more calcium in order to maintain their bone health.
  3. Certain genes regulate serum calcium levels. They do so by modifying the calcium receptors, vitamin D, and parathyroid hormone levels. Some examples of genes influencing calcium levels include CASR, GATA3, and CYP24A1. SNPs in these genes can increase or decrease the calcium levels in your body.
  4. Both excess (hypercalcemia) and low (hypocalcemia) levels of calcium are harmful. Hypocalcemia can result in muscle pain, fatigue, dry skin, depression, and brittle bones, while hypercalcemia can affect various organs like the kidney, brain, and heart.
  5. Sufficient dietary intake can help prevent calcium deficiency. Dairy products, sardines, chicken, seeds, and leafy greens are some good sources of calcium.

Reference

https://www.health.harvard.edu/staying-healthy/how-much-calcium-do-you-really-need
https://medlineplus.gov/genetics/gene/casr/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908705/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778004/
https://medlineplus.gov/genetics/gene/cyp24a1/#conditions
https://en.wikipedia.org/wiki/Parathyroid_hormone

Pharmacogenomics, sometimes called as pharmacogenetics, is the study of how genes affect a person’s response to drugs. It is a combination of two fields - pharmacology (the science of drugs) and genomics (the study of genes and their functions). 

Just like how genes determine our eye color, height, etc. they also partly influence how our body responds to drugs. Some chemical changes in these genes can elicit unwanted side effects upon drug consumption.

The long-term goal of pharmacogenomic research is to design drugs best suited for each person, in order to avoid these undesirable side effects. 

The Importance of Pharmacogenomics

Genes influence multiple steps involved in your response to drugs. They include:

Drug Receptors: Some drugs require a type of protein called the receptors, to which they bind and get activated. Your genes can influence the number and effectiveness of these receptors.

Example: T-DM1 is a drug used to treat breast cancer. This drug works by attaching to a receptor called the HER-2 receptor. However, not all breast cancer cells express this receptor. So, this drug may not be effective for all individuals with breast cancer. 

Drug Uptake: Certain drugs are activated only after they are taken into the cells and tissues. If your genetic makeup leads to reduced uptake of the drug, it may accumulate in other parts of the body. 

Example: Statins are a class of drugs commonly used to treat high cholesterol levels. For the drug to work, it must be transported to and taken up by the liver efficiently. SLCO1B1 gene influences this process. A change in this gene results in a reduced transport of statins to the liver. This can result in statin buildup in muscles resulting in pain and weakness. 

Drug breakdown/metabolism: If your genetic makeup results in a faster breakdown of drugs, it gets clear from the body faster. This may warrant an increased dosage of the drug or a different drug. On the other hand, if your drug metabolism is slow, it stays in your body for a longer period. In this case, a lower dosage may do the work. 

Example: Amitriptyline is an antidepressant drug. Two genes, namely, CYP2D6 and CYP2C19, are involved in its metabolism. If you carry a change that slows down or boosts the metabolism, you may need to alter the drug dosage accordingly. 

Patients can respond differently to the same medicine. 

Commonly used drugs to treat some medical conditions need not be effective for everyone. Some examples are:

- Antidepressants drugs (SSRIs) are ineffective in as many as 38% of patients who are prescribed these drugs 

- Asthma drugs are ineffective in as many as 40% of patients who are prescribed these drugs 

- Diabetes drugs are ineffective in as many as 43% of patients who are prescribed these drugs 

- Arthritis drugs are ineffective in as many as 50% of patients who are prescribed these drugs 

- Alzheimer’s drugs are ineffective in as many as 70% of patients who are prescribed these drugs

- Cancer drugs are ineffective in as many as 75% of patients who are prescribed these drugs

- Cardiac Arrhythmias drugs are ineffective in as many as 40% of patients who are prescribed these drugs

Source: Brian B Spear, Margo Heath-Chiozzi, Jeffrey Huff, Clinical application of pharmacogenetics, Trends in Molecular Medicine, Volume 7, Issue 5, 2001, Pages 201-204, ISSN 1471-4914, https://doi.org/10.1016/S1471-4914(01)01986-4.

What Can a Pharmacogenomics Test reveal?

The purpose of pharmacogenomic testing is to find out if a medication is right for you. A pharmacogenomic test will help in knowing:

Efficacy - Whether a medication may be an effective treatment for you. 

Dosage - What is the best dose for you for specific medications. 

Toxicity - Whether you could have serious side effects from a medication.

CYP gene and Drug Responses

CYP enzymes or the Cytochrome P450 enzymes are the major drug-metabolizing enzymes in the body. The P450 enzymes contain a protein called heme (iron-containing compound) and are commonly present in hepatocytes (cells of the liver). This is why drugs are mostly broken down or metabolized in the liver. 

From a clinical perspective, the most commonly tested CYPs are:

- CYP2D6

- CYP2C9

- CYP2C19

- CYP3A5

Changes in CYP enzymes can influence the metabolism and clearance of drugs.
The CYP450 Test categorizes individuals into one of the four known metabolic profiles, called “predicted phenotypes.”

What are the limitations of a CYP test?

- Pharmacogenomic research is still in its infancy. Therefore, tests are available only for certain drugs.

- Any change in medication will require a new CYP test - this is because different enzymes are responsible for metabolizing different drugs

- The test reveals how genes affect the drugs and not what the drug does to the body (for example, we cannot determine how the drugs change certain receptors in the brain to alleviate the symptoms)

- Some drugs are metabolized and cleared by more than one CYP enzyme. For example, antidepressant drugs like the SSRIs (Selective Serotonin Reuptake Inhibitor) are metabolized by serotonin receptor molecules as well. This can limit the predictive value of the test.

Who should take the PGx test ?

If you answer yes to any of the below questions, you are an ideal candidate for a PGx test.

1. Are you currently taking four or more medications monthly?  

2. Have you or anyone in your family ever been hospitalized for taking medication?  

3. Have you or anyone in your family ever felt ill after taking a new medication?  

4. Has your doctor changed your dose of medication due to a lack of response or a reaction to the medication?  

5. Do you take your prescribed medication, and you still aren’t feeling better?

6. Are you taking or is your doctor considering prescribing to you pain medicine, tamoxifen, or Plavix?  

7. Do you take herbal supplements regularly in addition to your medication?  

Get Your Personalized Medicine Report


References:

  1. https://www.mayoclinic.org/tests-procedures/cyp450-test/about/pac-20393711
  2. Brian B Spear, Margo Heath-Chiozzi, Jeffrey Huff, Clinical application of pharmacogenetics, Trends in Molecular Medicine, Volume 7, Issue 5, 2001, Pages 201-204, ISSN 1471-4914, https://doi.org/10.1016/S1471-4914(01)01986-4.
  3. Ingelman-Sundberg M. Trends in Pharmacol Sci 2004;25(4):193-200
  4. Mrazek DA.Curr Psych Online 2004;3(9). Retrieved September 17, 2006

According to a research study by the University of Exeter Medical School in the United Kingdom, men with hemochromatosis, a common genetic disorder due to iron build-up, are ten times more likely to develop liver cancer. 

What is Hemochromatosis?

Hemochromatosis, also called the iron-overload disease, is a condition where too much iron builds up in the body. Usually, the intestines absorb adequate amounts of iron and excrete the rest.

With hemochromatosis, excess iron is absorbed by the intestines, and the body has no way of getting rid of it. As a result, iron gets built up in joints, the pituitary gland, and organs like the liver, heart, and pancreas.

This gradually results in the shutting down of these organs if hemochromatosis is not treated.

Hemochromatosis is more serious in men. Women may be partially protected as they lose some iron during menstruation and childbirth.

Some common symptoms associated with hemochromatosis include:

  1. Joint pain
  2. Weight loss
  3. Fatigue
  4. Low sex drive
  5. Abdominal pain

The HFE Gene

HFE gene is associated with iron homeostasis. A variant (type) of the HFE gene, called the C282Y (the faulty type), is significantly associated with hereditary hemochromatosis.

According to a study published in the American Journal of Human Genetics, the C282Y variant contributes to 26% variation in ferritin levels among monozygotic twins.

Hemochromatosis and Liver Cancer

With hemochromatosis, the iron build-up is commonly seen in the liver. This enlarges the liver and messes up the liver enzymes. It can result in an increased risk of liver conditions like cirrhosis, fibrosis, and cancer. 

Hepatocellular carcinoma (HCC), a primary form of liver cancer, was the first condition in which hepatic iron overload was shown to predispose to the development of HCC.

According to a study, 8-10% of people with hemochromatosis develop HCC.

The Study

The study was led by the University of Exeter Medical School along with the University of Connecticut, Western University in Ontario, and South Warwickshire NHS Foundation Trust.  

This study focused on men and women with two copies of the faulty HFE gene - C282Y. The data of 2890 people aged 40-70 years were analyzed over a nine-year period.

The following were observed:

  1. 21 out of the 1,294 men with faulty genes developed liver cancer
  2. 14 out of these 21 men died of liver cancer
  3. 10 out of these 21 men were not diagnosed with hemochromatosis by the time they developed liver cancer
  4. **More than 7% of the men** with two faulty genes develop liver cancer by 75 years of age
  5. No increase in liver cancer risk was found in women with the faulty genes

The study insists on the importance of early diagnosis of hemochromatosis in order to avoid health complications and even death.

The NHS advises that “it is important to talk to your GP if you have a parent or sibling with hemochromatosis, even if you don’t have symptoms yourself” to identify your risk. 

The lack of impact on women from the faulty HFE gene variant may suggest that periodic blood donations might play a protective role.

Summary

  1. Hemochromatosis is a condition where your body absorbs too much iron resulting in its build-up in joints and organs. It leads to complications like low sex drive, fatigue, and abdominal pain.
  2. When iron builds up in the liver, it can alter the size of the liver and disturb the liver enzymes. Both these factors contribute to the increased susceptibility to liver diseases like fibrosis, cirrhosis, and cancer.
  3. The HFE gene is associated with the regulation of iron levels in the body. The faulty type of the HFE gene called C282Y increases your risk for hemochromatosis. 
  4. A study by the University of Exeter Medical School revealed that men with two copies of the faulty gene are at an increased risk of developing liver cancer. According to the study, by the age of 75, more than 7% of these men had developed liver cancer. No association was found in women with the faulty genes and liver cancer risk.
  5. Genetic testing, which analyzes your HFE gene type, is a key way to prevent and manage hemochromatosis. The NHS advises people who have a sibling or a close family member with hemochromatosis to talk to their healthcare provider for suitable tests.

Reference:

  1. https://www.sciencecodex.com/liver-cancer-ten-times-more-likely-men-common-genetic-disorder-haemochromatosis-661896
  2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668053/
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995380/

Eggs have been a part of our diet for thousands of years now. Being high in protein and several vitamins, eggs are rated as one of the most nutritious foods on the planet. However, new research from the University of South Australia shows that excess egg consumption can increase your risk of diabetes.

Diabetes mellitus, commonly known as diabetes, results in high blood sugar. The insulin hormone is responsible for regulating blood sugar levels. With diabetes, your body either doesn’t make enough insulin or can’t effectively use the insulin made.

In the United States, 27.9 and 32.7 percent of the population have diagnosed and undiagnosed diabetes, respectively. 

Untreated diabetes can increase the risk of dangerous complications, including stroke and heart disease.

Eggs and Diabetes

According to The American Diabetes Association, eggs are a good choice for people with diabetes - primarily because one large egg contains only around 0.5 g of carbohydrates. However, eggs are high in cholesterol - one large egg contains nearly 200 mg of cholesterol. 

If you have diabetes, it is recommended to limit your egg consumption or consume only the whites.

The Study

The University of Australia, along with the China Medical University and Qatar University, assessed egg consumption in a large sample of Chinese adults. They found that “people who regularly consumed one or more eggs per day (equivalent to 50 grams) increased their risk of diabetes by 60 percent.

The prevalence of diabetes in China has now crossed the global average of 8.5%. According to the study, China has experienced a nutritional shift, with many people moving from a plant-based diet to processed diets that include meat and other animal-based foods over the last few years.

Egg consumption has also been steadily increasing. From 1991-2009 the number of people consuming eggs in China has nearly doubled.  

The effect of egg consumption on glucose was determined by measuring the fasting blood glucose levels. The researchers discovered that “higher long-term egg consumption (greater than 38 grams per day) increased the risk of diabetes among Chinese adults by approximately 25 percent.”

Additionally, people who consumed more than 50 grams of egg had a 60% increased risk for diabetes. This effect was more pronounced in women than men.

How To Consume Eggs Safely?

Shorter and lower-heat cooking methods help retain most of the egg’s nutrients.

So, boiled or poached eggs without added salt are healthier than frying them in butter or unhealthy oil. 

The egg whites are high in protein and low in cholesterol.

Other Dietary Recommendations For Diabetic People

Your diet can help both managing and preventing diabetes. Some diabetic-friendly foods include:

  1. Leafy greens
  2. Avocados
  3. Fatty fish
  4. Lean meat
  5. Nuts
  6. Extra-virgin olive oil
  7. Apple cider vinegar

Summary

  1. Diabetes is one of the most common metabolic disorders that result in high blood sugar levels. People with diabetes either are not sensitive to insulin or produce insufficient insulin - blood sugar controlling hormone.
  2. Eggs are considered very nutritious as they are high in protein and vitamins - however, they are also high in cholesterol. So, they have been associated with heart diseases and stroke. 
  3. According to new research from the University of South Australia in the Chinese population, the consumption of eggs can lead to an increased risk of diabetes. Consuming 50 grams or more of eggs per day can lead to a 60% increased risk for diabetes.
  4. Poaching or boiling eggs is a safer way of consuming them. People who have diabetes may benefit from including foods like avocados, fatty fish, and nuts in their diet.

References:

  1. https://www.niddk.nih.gov/health-information/diabetes/overview/preventing-problems/heart-disease-stroke
  2. https://www.niddk.nih.gov/health-information/diabetes/overview/preventing-problems/heart-disease-stroke
  3. https://www.niddk.nih.gov/health-information/diabetes/overview/preventing-problems/heart-disease-stroke
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2628696/

For years, diets called for the elimination of fats, urging us to move towards low-fat alternatives. While, like any other nutrient, overdoing fats can lead to weight gain, cutting out dietary fats need not necessarily result in weight loss. Replacing bad fats (trans fats, saturated fats) with good fats (mono and poly-unsaturated fats) comes with benefits that extend beyond weight loss. This article covers everything there is to know about incorporating monounsaturated fats in your diet. 

Monounsaturated Fatty Acids

Fats are an important component of any meal as they help in absorbing fat-soluble vitamins and minerals.

They also store energy within the body, protect vital organs, and help in muscle movement.

Fats are chains of carbon and hydrogen, and depending on the length of these chains and the arrangement of these atoms, they are classified into different types of fats.

The “mono” in monounsaturated fats represents the single double bond that is found in its chemical structure.

Owing to this chemical structure, monounsaturated fats are often liquid at room temperature.

History Of Fat Consumption

Anthropologists claim that the diet of early humans was more similar to that of modern chimpanzees. They consumed fruits, vegetables, leaves, flowers, and meat. It is believed that meat was first consumed about 2.6 million years ago.  

However, our early ancestors engaged in scavenging food rather than hunting. They consumed the edible portions of flesh that were left behind by the predator. Jesicca Thompson, an anthropologist from Yale University, says that the early humans consumed bone marrow stuck in between the bones of the dead animal rather than the “meat.” The marrows are rich in fat content. Thompson claims that it was around this time that humans started adding fat-rich food to their diet. 

Modern-day diet has monounsaturated fats in vegetable and seed oils. A study confirmed that the first use of vegetable oil, particularly olive oil, was seen around 8000 years ago in the Middle East. But it was in the 1600s when people started making oil from vegetables. 

The 1800s saw the widespread use of vegetable oil as the commonly used whale oil became expensive. In the process of making affordable soaps using cottonseed oil, two industrialists in Cincinnati took the opportunity to introduce it in the food industry. In a few years, animal fats were replaced by vegetable cooking oils, and we can still find them in our kitchens today. 

Studies observed that people from the Middle East or the Mediterranean countries had a lower risk of heart diseases, despite consuming a fat-rich diet. Further investigation showed that their diet included olive oil and other seed oils as their main source of fat and not animal fat. This could mean that the health benefits come from unsaturated fats rather than saturated fats from animals. 

Importance of Monounsaturated Fatty Acids

A study consisting of around 840,000 adults aged 4-30 years found that the consumption of monounsaturated fats reduced the risk of heart disease by 12%, compared to the control group (little to no monounsaturated fats consumption)

Monounsaturated fats improve overall health by:

Sources of monounsaturated fats are olive oil, peanut oil, avocados, nuts, safflower, and sunflower oils.

Is There A Relationship Between Monounsaturated Fats And Weight Gain?

Weight gain is caused when the calories consumed are greater than the calories burnt.

All fats provide the same amount of energy, which is about nine calories per gram.

Based on your lifestyle and your basal metabolic rate, including the right amount of fat in your diet, can help with weight management. 

Even though weight gain/loss is a simple equation of calories in and out, the quality of the food you eat as part of your diet is very important.Some studies have shown that if calorie intake remains the same, diets high in MUFAs lead to weight loss and could even be more effective than a high-carb diet.

What Is The Recommended Amount Of Monounsaturated Fat Intake?

It is recommended to use monounsaturated fats as a replacement to saturated or trans-fats as much as possible.

The 2015 Dietary Guidelines for Americans suggest that fats should be limited to 25 to 30% of the total daily calories; this includes all types of fats.

How Do Genes Affect The Relationship Between Monounsaturated Fats And Weight?

ADIPOQ

This gene is involved in the control of fat metabolism (break down) and insulin sensitivity (how well your body responds to insulin) in the body.

Changes in this gene directly affect anti-diabetic, anti-atherogenic (preventing fatty deposit formation), and anti-inflammatory activities.

The gene codes for a protein called the adiponectin, that is involved in aids fatty acid breakdown. Higher the adiponectin levels, more efficient the fatty acid breakdown.

Decreased adiponectin levels are thought to play a central role in obesity and type 2 diabetes.

Changes in lifestyle, such as incorporating exercise and a following balanced diet, that result in weight loss, can lead to an increase in adiponectin concentration and increase insulin sensitivity.

rs17300539

A study found that a variation rs17300539 in the ADIPOQ gene can lead to a difference in blood adiponectin levels.

Individuals with a G allele have lower blood adiponectin levels when compared to those with an A allele. Carriers of the A allele (AA/AG), therefore, had lower weight, BMI, waist, and hip circumferences.

While considering the monounsaturated fats intake of greater than 13% of the total energy intake, the A allele carriers had a considerably lower BMI compared to GG carriers.

This shows a relationship between the effect of a gene on monounsaturated fats intake and weight.

NR1D1

NR1D1, also known as Rev-ErbA alpha, is present in the liver, skeletal muscles, adipose (fat) tissues, and the brain in mammals.

Adipogenesis is the process by which adipocytes, or fat cells are formed.

Rev-ErbA alpha includes adipogenesis and could be a potential target for novel anti-obesity treatments. 

rs2314339

A study analyzed the association between NR1D1, monounsaturated fats intake, and weight in North American and Mediterranean populations.

People with the AA and AG types had a lower waist circumference and a decreased risk for obesity than people with the GG type.

The A allele occurrence was also significantly low in the ‘abdominally obese’ group.

There was also a significant interaction for obesity with NR1D1 and monounsaturated fats intake in the Mediterranean population.

Individuals with the A allele had higher protection against obesity with diets rich in monounsaturated fats. (>55% of total fat).

PPARG

PPARG is a gene predominantly present in adipose tissue. It plays a role in adipocyte differentiation (converting one type of cell to another), regulating glucose levels, and insulin signal transduction (communication between two cells).

A change in this gene has been studied to play a role in increased sensitivity to insulin and a more favorable lipid profile.

rs1801282

A study recruited overweight subjects between the ages of 20-65 years in southeastern Spain.

They analyzed the subjects as they underwent a treatment program for obesity.

This included analyzing the diets and the number of calories expended during exercise.

They found a gene-diet interaction between PPARG and monounsaturated fats intake.

People who had the G allele (CG/GG) were significantly less obese than those with the C allele (CC) - when monounsaturated fats intake was high (>56% of total fat).

This difference disappeared in low monounsaturated fats diets. 

Overall, in each case, diets with high monounsaturated fats intake (>55% of total fat) resulted in a greater weight loss in individuals.

Food Sources Of MUFA

Most foods have a combination of all types of fats. Foods and oils that have a higher percentage of MUFA are:

Summary

Fats are a necessary component in a balanced diet. However, not all types of fats are healthy. While saturated fats are the ‘bad fats,’ the unsaturated fats are ‘good fats.’ Monounsaturated fats or MUFAs are fats joined by a single bond. They help reduce the risk of health conditions like diabetes and cancer. They also enhance insulin sensitivity and, therefore, play a role in weight management. Several genes ADIPOQNR1D1, and PPARG, mediate how your body responded to MUFAs in terms of weight gain. People with certain types of these genes tend to benefit more from MUFA consumption in terms of weight loss and can include more MUFA-rich foods in their diets. Some food sources of MUFAs include avocados, olive oil, peanuts, and eggs. Even though MUFAs are present in certain animal sources like red meat, their benefits are negated by the saturated fats in them.

Reference

  1. https://www.nature.com/scitable/knowledge/library/evidence-for-meat-eating-by-early-humans-103874273/
  2. https://insidescience.org/news/importance-fat-early-human-evolution
  3. https://www.academia.edu/9517113/Olive_oil_storage_during_the_fifth_and_sixth_millennia_BC_at_Ein_Zippori_Northern_Israel
  4. https://www.health.harvard.edu/staying-healthy/the-truth-about-fats-bad-and-good/
  5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198773/
  6. https://www.healthline.com/health/what-is-basal-metabolic-rate
  7. https://www.medicalnewstoday.com/articles/323027
  8. https://www.medicinenet.com/script/main/art.asp?articlekey=17982
  9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5486142/
  10. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2753535/
  11. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4059404/
  12. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951915/
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